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Metadata
ID	DOID:0050662
Name	bestrophinopathy
Definition	A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. https://www.ncbi.nlm.nih.gov/pubmed/24859690, https://www.ncbi.nlm.nih.gov/pubmed/25545482, https://www.omim.org/entry/611809
Xrefs	MESH:C567518 OMIM:611809
Synonyms	autosomal recessive bestrophinopathy [EXACT]
Parent Relationships	is_a macular degeneration